Rethoré M O, Renault F, Lafourcade J, Supeira C, Padovani J P, Lejeune J
Sem Hop. 1983 Jul 7;59(27-28):2039-42.
Trisomy 17p resulting from a parental translocation t(10;17)(q26.3;p11) was observed in a 22-month-old boy. Analysis of five cases of trisomy 17p from the literature indicates a common malformation pattern: microcephaly, excessive development of the median part of the frontal region, mandibular hypoplasia, permanent opening of the mouth, a high-arched palate, a short, webbed neck, hypotonia, growth retardation, and severe mental retardation. Three abnormal features emphasized by the authors are permanent myosis due to a structural anomaly of the iris; an unusually low blood folate concentration; and an unusual hand configuration, the first four fingers flexed and the little finger extended.
在一名22个月大的男孩中观察到因父母一方发生t(10;17)(q26.3;p11)易位导致的17p三体综合征。对文献中五例17p三体综合征病例的分析表明存在一种常见的畸形模式:小头畸形、额部正中部分过度发育、下颌发育不全、口常开、高拱腭、短蹼颈、肌张力减退、生长发育迟缓以及严重智力障碍。作者强调的三个异常特征为:由于虹膜结构异常导致的永久性瞳孔缩小;异常低的血液叶酸浓度;以及异常的手部形态,即前四指弯曲而小指伸展。